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Mostrati risultati da 41 a 60 di 166
Titolo Data di pubblicazione Autori File
Nuclear localization of FANCC is required for functional activity 1-gen-1999 SAVOIA, ANNA +
Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with LOH at 16q24.3 1-gen-1999 SAVOIA, ANNA +
Muatation analysis of the Fanconi A gene in breast tumours with loss of heterozygosity at 16q24.3 1-gen-1999 SAVOIA, ANNA +
Heterogeneous stectrum of mutations in the Fanconi anaemia group A gene 1-gen-1999 SAVOIA, ANNA +
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 1-gen-1999 SAVOIA, ANNA +
Familial dominnat thrombocytopenia: Clinical, Biological, and Molecular Studies 1-gen-1999 SAVOIA, ANNA +
(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome. 1-gen-1999 SAVOIA, ANNA +
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 1-gen-2000 GASPARINI, PAOLOSAVOIA, ANNA +
Hereditary thrombocytopenia due to reduced platelet production: report of two families and mutational screening of thrombopoietin receptor gene 1-gen-2000 SAVOIA, ANNA +
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes 1-gen-2000 SAVOIA, ANNA +
Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group. 1-gen-2000 SAVOIA, ANNA +
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1 1-gen-2000 SAVOIA, ANNA +
Molecular and functional analyses of the human and the murine genes coding for AFG3L1p, a metalloprotease homologous to the human spastic paraplegia protein 1-gen-2001 SAVOIA, ANNA +
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 1-gen-2001 SAVOIA, ANNA +
The Epstein syndrome: a further renal disorder due to mutations in the nonmuscle myosin heavy chain 9 gene 1-gen-2002 SAVOIA, ANNA +
Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders 1-gen-2002 SAVOIA, ANNA +
Anemia di Fanconi: recenti progressi nella caratterizazione dei meccanismi patogenetici 1-gen-2002 SAVOIA, ANNA
Cloning of the murine nonmuscle heavy chain myosin IIA gene, ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes 1-gen-2002 SAVOIA, ANNA +
Combined 17a-hydroxylase/17-20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene 1-gen-2002 SAVOIA, ANNA +
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome 1-gen-2002 SAVOIA, ANNA +
Mostrati risultati da 41 a 60 di 166
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